Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes.

ABSTRACT: Deleterious genetic variants in POGZ, which encodes the chromatin regulator Pogo Transposable Element with ZNF Domain protein, are strongly associated with autism spectrum disorder (ASD). Although it is a high-confidence ASD risk gene, the neurodevelopmental functions of POGZ remain unclear. Here we reveal the genomic binding of POGZ in the developing forebrain at euchromatic loci and gene regulatory elements (REs). We profile chromatin accessibility and gene expression in Pogz^-/- mice and show that POGZ promotes the active chromatin state and transcription of clustered synaptic genes. We further demonstrate that POGZ forms a nuclear complex and co-occupies loci with ADNP, another high-confidence ASD risk gene, and provide evidence that POGZ regulates other neurodevelopmental di

SUBMITTER: Markenscoff-Papadimitriou E 

PROVIDER: S-EPMC9512081 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature